Concepedia

Francesc Palau

FP

114

Publications

8.8K

Citations

45

H-Index

1985

Active since

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Hospital Universitari i Politècnic La Fe

Instituto de Biomedicina de Valencia

Hospital Sant Joan de Déu Barcelona

Centro de Investigación Biomédica en Red

Francesc Palau is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, genetics, and neurology.

ORCID

Top concepts

Publications per year

1985–2023

114

Publications

114

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Victoria Campuzano, Laura Montermini, María Dolores Moltó et al. · Science · 1996 · 2.7K citations

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

Ana Cuesta, Laia Pedrola, Teresa Sevilla et al. · Nature Genetics · 2001 · 359 citations

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The HLA-DQ2 genotype selects for early intestinal microbiota composition in infants at high risk of developing coeliac disease

Marta Olivares, Alexander Neef, Gemma Castillejo et al. · Gut · 2014 · 292 citations · Full text

GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

Laia Pedrola, Antonio Espert, Xingyao Wu et al. · Human Molecular Genetics · 2005 · 178 citations · Full text

Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat

Eugènia Monrós, María Dolores Moltó, Francisco Martı́nez et al. · The American Journal of Human Genetics · 1997 · 173 citations · Full text

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